Canonical Allele Identifier: CA146017

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046681A>G , CM000666.2:g.88046681A>G	GRCh38
NC_000004.11:g.88967833A>G , CM000666.1:g.88967833A>G	GRCh37
NC_000004.10:g.89186857A>G	NCBI36
NG_008604.1:g.44014A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1359A>G MANE Select	ENSP00000237596.2:p.Pro453=
ENST00000237596.6:c.1359A>G	ENSP00000237596.2:p.Pro453=
ENST00000508588.5:c.-199+3224A>G	ENSP00000427131.1:n.-199+3224A>G
NM_000297.3:c.1359A>G	NP_000288.1:p.Pro453=
XM_011532028.1:c.1134A>G	XP_011530330.1:p.Pro378=
XM_011532029.1:c.639A>G	XP_011530331.1:p.Pro213=
XM_011532030.1:c.519A>G	XP_011530332.1:p.Pro173=
XR_244632.2:n.1454A>G
NR_156488.1:n.1446A>G
XM_011532028.2:c.1134A>G	XP_011530330.1:p.Pro378=
XM_011532030.2:c.519A>G	XP_011530332.1:p.Pro173=
NM_000297.4:c.1359A>G MANE Select	NP_000288.1:p.Pro453=
NR_156488.2:n.1458A>G